Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
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DOI: 10.1016/j.biopsych.2018.02.1173
Abstract: BACKGROUND In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism… read more here.
Keywords: intellectual disability; autism; disorder; mutations adnp ... See more keywords
Mutations in ADNP affect expression and subcellular localization of the protein
Sign Up to like & getrecommendations! Published in 2018 at "Cell Cycle"
DOI: 10.1080/15384101.2018.1471313
Abstract: ABSTRACT Truncating de novo mutations in ADNP have been identified in patients with the Helsmoortel-Van der Aa syndrome. However correlations between the distinct mutations and their impact on the protein have not been studied before.… read more here.
Keywords: protein; mutations adnp; expression subcellular; subcellular localization ... See more keywords